Article
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
Molecular medicine reports - 1 Oct 2016
Chen Jingchang, Ye Qingqing, Deng Daming, Yan Jianhua, Lin Houbian, Shen Tao, Lin Ying
Abstract excerpt
Congenital fibrosis of the extraocular muscles (CFEOM) is a hereditary ocular disease and can be classified into three subtypes. The aim of the present study was to determine the genetic basis and describe the clinical phenotype of CFEOM type 1 and 3. Two Chinese families with CFEOM type 1 and 3 were identified. The patients and their family members were subjected to comprehensive ophthalmic examinations,...
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